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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:pigmented paravenous chorioretinal atrophy
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Accession:DOID:0111541 term browser browse the term
Definition:An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in CRB1 on chromosome 1q31.3. (DO)
Synonyms:exact_synonym: PPCRA;   PPRCA
 primary_id: MESH:C566801
 alt_id: OMIM:172870
 xref: ORDO:251295
For additional species annotation, visit the Alliance of Genome Resources.


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pigmented paravenous chorioretinal atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs cell polarity complex component 1 ISO DNA:missense mutation:cds:p.V162M (human)
ClinVar Annotator: match by OMIM:172870
ClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophy
OMIM
ClinVar
PMID:10508521 PMID:11231775 PMID:12843338 PMID:14971589 PMID:15024725 PMID:15459956 PMID:15623792 PMID:16123401 PMID:16272259 PMID:17964524 PMID:18055816 PMID:19339744 PMID:19401883 PMID:20079931 PMID:20301475 PMID:20956273 PMID:21602930 PMID:22065545 PMID:22968130 PMID:23105016 PMID:23379534 PMID:23449718 PMID:24033266 PMID:24512366 PMID:24715753 PMID:25097241 PMID:25741868 PMID:27113771 PMID:28041643 PMID:28492532 PMID:30029497 PMID:30718709, PMID:15623792 RGD:8552694 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    sensory system disease 5201
      eye disease 2608
        Hereditary Eye Diseases 579
          pigmented paravenous chorioretinal atrophy 1
Path 2
Term Annotations click to browse term
  disease 16158
    Developmental Disease 9628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8455
        genetic disease 7972
          monogenic disease 5749
            autosomal genetic disease 4887
              autosomal dominant disease 3117
                pigmented paravenous chorioretinal atrophy 1
paths to the root